-
Notifications
You must be signed in to change notification settings - Fork 2
New issue
Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.
By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.
Already on GitHub? Sign in to your account
Update metaschema to use VRS 2.0-alpha changes #476
Comments
Per @ahwagner HGVS Dup Del Mode will be updated to: This mode helps us interpret deletions and duplications that are represented as HGVS expressions.\
The mode can be set to `default`, `copy_number_count`, `copy_number_change`, `ref_len_expr`, or `literal_seq_expr`.
## Default Characteristics
- if baseline_copies is not set and endpoints are ambiguous:
- copy_number_change
- if copy_change not provided:
- copy_change = `efo:0030067` (loss) if del, `efo:0030070` (gain) if dup
- elif baseline_copies is provided:
- copy_number_count
- copies are baseline_copies + 1 for dup, baseline_copies - 1 for del
- elif len dup > 100bp: (use outermost coordinates)
- ref_len_expr (Allele)
- state.length is 0 if deletion
- else:
- literal_seq_expr (normalized LiteralSequenceExpression Allele)
{
"type": "Allele",
"location": {
"sequence": "refseq:1",
"start": 1000,
"end": 2000
},
"state": {
"type": "ReferenceLengthExpression",
"length": 2000,
"repeatSubunitLength": 1000
}
}
{
"type": "Allele",
"location": {
"sequence": "refseq:1",
"start": 1000,
"end": 2000
},
"state": {
"type": "ReferenceLengthExpression",
"length": 0,
"repeatSubunitLength": 1000
}
} |
Per @ahwagner , we are going to change the HGVS Dup Del Modes to |
@ahwagner For if len dup > 100bp: (use outermost coordinates)
- ref_len_expr
- state.repeatSubunitLength
- deletion: length of alt sequence
- duplication: location.end - location.start
- state.length
- deletion: 0
- duplication: state.repeatSubunitLength * 2
else:
- literal_seq_expr Update: Actually, I think it should just be LSE because |
I think for now it is fine to just accept LSEs only prior to normalization. If we haven't already, we should probably also write a method that generates the literal sequence for an RLE. |
TODO:
|
Closed by #512. |
Will do this once #474 gets merged and VRS-Python has been updated to use pydantic V2 models
The text was updated successfully, but these errors were encountered: